FaCD Online Syndrome Fact Sheet

Last updated: 01 Sep 2008

Name: Russell-Silver syndrome

Synonym: Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism

Mode of Inheritance: spor+impr(mat)/ AD?/ XL?/ AR?

Genes

CSH1, mapped to 17q22-q24
GRB10, mapped to 7p11.2-p12
RSS#, mapped to 17q25

Tumor features (possible)

craniopharyngioma
hepatocellular cancer (hepatoma)
testicular teratoma
Wilms' tumor (nephroblastoma)

Non-tumor features

café au lait spots
clinodactyly
cryptorchism
frontal bossing / prominent forehead
growth deficieny
limb asymmetry
micrognathia
mouth, down-turned corners of
sexual precocity
short stature
skeletal dysplasia
triangular facies
vertebral anomalies

Comment

This disorder is characterized by low birth weight and short stature, asymmetry of limbs, craniofacial dysmorphisms and skeletal anomalies[1,6]; its genetics is complex[6]. Hepatocellular cancer, craniopharyngioma, embryonal testicular cancer and Wilms tumor have been reported in patients with this disorder[2-5].

Links

Magic Foundation info on Russell-Silver 18 1 08

References

[1] Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36:837-842.
[2] Bruckheimer E, Abrahamov A. Russell-Silver syndrome and Wilms tumor. The Journal of pediatrics 1993; 122(1):165-6.
[3] Weiss GR, Garnick MB. Testicular cancer in a Russell-Silver dwarf. The Journal of urology 1981; 126(6):836-7.
[4] Chitayat D, Friedman JM, Anderson L, Dimmick JE. Hepatocellular carcinoma in a child with familial Russell-Silver syndrome. American journal of medical genetics 1988; 31(4):909-14.
[5] Draznin MB, Stelling MW, Johanson AJ. Silver-Russell syndrome and craniopharyngioma. The Journal of pediatrics 1980; 96(5):887-9.
[6] Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. Journal of medical genetics 2008; 45(4):193-9.